Ketogenic diet in epilepsy in the first year of life

Background: Considering the heightened occurrence of epilepsy within the initial two years of life and its comparatively more deleterious influence on psychomotor development in infants when compared with older children, early diagnosis and seizure control are necessary for fostering developmental progress. The ketogenic diet (KD) demonstrates notable efficacy, especially in epilepsy syndromes that commence in early infancy, and has been observed to achieve a higher degree of success in attaining seizure freedom when applied in the younger age demographic. We describe three patients with drug-resistant epilepsy who started ketogenic diet (KD) treatment in their first year of life. Method: In adherence to international guidelines in the application of the ketogenic diet, a deliberate selection process was undertaken to identify and include three patients as subjects in our study. Subsequently, a comprehensive retrospective data collection protocol was implemented, encompassing a diverse range of parameters such as clinical observations, electroencephalography findings, laboratory test results, and growth-related metrics, with the aim of achieving a thorough and multifaceted understanding of the treatment outcomes. Results: In two cases within our study cohort, a definitive etiological diagnosis was established, specifically identifying Glut1 deficiency syndrome and the presence of a pathogenic variant in DEPDC5. Conversely, the third case remains without a conclusive diagnosis at the present time. Despite the lack of a definitive diagnosis in one case, noteworthy enhancements in both clinical and electroencephalographic status were observed across all three patients. Remarkably, each of them achieved a state of seizure freedom, even after discontinuing anti-seizure medications. It is noteworthy that one of the individuals, who initially presented with a moderate-to-severe developmental delay, demonstrated a trajectory of normal cognitive development after the initiation of the ketogenic diet. Conclusion: The findings presented in our study provide compelling validation for both the safety and efficacy of the ketogenic diet when implemented in infancy, catering to patients with diverse epilepsy etiologies. Notably, this dietary intervention has demonstrated the capacity to achieve seizure freedom even in cases characterized by prior resistance to conventional antiepileptic drugs. Such observations prompt consideration for positioning the ketogenic diet as a viable early treatment option for infants with epilepsy, challenging the prevailing notion of reserving it solely as a final recourse subsequent to the ineffectiveness of multiple anti-seizure medications.